Germline and Somatic Mosaicism in a Female Carrier of Hunter Disease

Overview

Journal J Med Genet

Specialty Genetics

Date 1997 Feb 1

PMID 9039991

Citations 7

Authors

R Froissart

I Maire

V Bonnet

T Levade

D Bozon

Affiliations

Soon will be listed here.

Abstract

Carrier detection in a mucopolysaccharidosis type II family (Hunter disease) allowed the identification of germline and somatic mosaicism in the patient's mother: the R443X mutation was found in a varying proportion in tested tissue (7% in leucocytes, lymphocytes, and lymphoblastoid cells, and 22% in fibroblasts). The proband's sister carries the at risk allele (determined by haplotype analysis), but not the mutation. In sporadic cases of X linked diseases, germline mosaicism of the proband's mother is difficult to exclude and should be considered in genetic counselling.

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